RÉSUMÉ
Background@#Six-pyruvoyl-tetrahydrobiopterin synthase (6-PTPS) deficiency is an inherited metabolic disorder which results in tetrahydrobiopterin (BH4) deficiency causing hyperphenylalaninemia.@*Objective@#This study aimed to describe the clinical, biochemical, and radiologic profiles, and neurologic and developmental outcomes of patients diagnosed with 6-pyruvoyl tetrahydrobiopterin (PTPS) deficiency through newborn screening and confirmed by BH4 loading test, pterin analysis, and gene sequencing who were following-up with the metabolic team.@*Methods@#The research was a single-center descriptive case series study design that was done at the Philippine General Hospital, a tertiary government hospital. The clinical, biochemical, radiologic profiles and neurodevelopmental evaluation of each patient were described.@*Results@#Nine patients from 1 year 2 months to 14 years 5 months of age were enrolled in the study. Clinical manifestations before treatment were hypotonia, poor suck, and seizure. The most common clinical manifestation even after treatment initiation was seizure. The mean phenylalanine level on newborn screening was 990.68 umol/L, but after treatment was started, mean levels ranged from 75.69 to 385.09 umol/L. Two of the patients had focal atrophy of the posterior lobe on brain imaging. Pathogenic variants on molecular analysis were all missense, with two predominant variants, c.155A>G and c.58T>C. Eight of the nine patients had varying degrees of developmental delay or intellectual disability, while the remaining patient had signs of a learning disorder. @*Conclusion@#Newborn screening has played a crucial role in the early identification and management of patients with hyperphenylalaninemia due to 6-PTPS deficiency. Confirmation of diagnosis through determination of DHPR activity, urine pterins and/or molecular analysis is necessary for appropriate management. However, despite early initiation of treatment, neurodevelopmental findings of patients with 6-PTPS deficiency were still unsatisfactory.
RÉSUMÉ
Protein tyrosine phosphatase 1B (PTP1B) belongs to the protein tyrosine phosphatase superfamily, which can dephosphoiylate protein tyrosine residues and plays an important role in cell life. Excessive inflammation can damage normal tissues, leading to organ dysfunction and irreversible structural damage. In recent years, a large number of scientific studies have found that PTP1B plays an indispensable role in tissue inflammation. On the one hand, it regulates the functions of macrophages and microglia through regulating inflammatory signaling pathways; on the other hand, it can affect the apoptosis of tissue cells, and the two jointly promote the occurrence and development of tissue inflammation. This paper will review the role and mechanism of PTP1B in inflammation of different tissues, and lay a theoretical foundation for subsequent studies and the discovery of effective drug targets.
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Objective To observe the clinic effects and safety of thoracic dorsal root ganglion(DRG) pulsed radiofrequency in treating post-thoracotomy pain syndrome(PTPS). Methods 47 PTPS patients were treated with thoracic DRG pulsed radiofrequency. VAS, Oxycodone dosage, medicine side effects before and after operation were recorded. Results The VAS before operation and 1 d, 15 d, 1 m, 3 m, 6 m, 12 m after operation were 6. 3 ±2. 4, 4. 1 ±1. 8, 3. 2 ±1. 3, 2. 5 ±1. 5, 2. 1 ±0. 9, 2. 0 ±0. 8 and 2. 2 ±1. 1 respectively. The oxycodone dosage were (28. 5 ±10. 2)mg, (12. 3 ±5. 7)mg, (8. 3 ±3. 8)mg, (7. 6 ± 3. 1) mg, (7. 0 ± 3. 4) mg, (6. 6 ± 2. 7) mg and (7. 2 ± 3. 2) mg respectively. The difference was significant compared with the preoperative (P＜0. 05). No serious complications occurred. Conclusion Thoracic DRG pulsed radiofrequency was a safe and effective method in treating PTPS.
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Objective To observe the curative effect and adverse reactions of intercostals nerve block combined with fentanyl transdermal system in treatment of post-thoracotomy pain syndrome (PTPS). Methods Intercostals nerve block combined with fentanyl transdermal system was used for treatment of 141 patients with PIPS. The degree of pain relief was evaluated by numerical rating scale (NRS),the quality of life of patients was evaluated by the quality of life score standard,and the adverse reactions were also observed. Results The overall remission rate was 97.85%,there were 51 cases (36.43%)with complete remission, 80 cases (57.14%)with significant remission,and 6 cases (42.85%) with moderate remission. The adverse reactions included nausea,vomiting, constipation,dizziness,skin pruritus and dysuria,no serious liver and kidney function damage and respiratory inhibition. The quality of life of all patients was improved. Conclusion Multimodal analgesia has better curative effect and less adverse reactions in treatment of PTPS,so it deserves clinical promotion.